C0152101[trait identifier] AND "The Raphael Recanati Genetics Institut - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1162784	NM_014209.4(ETV2):c.350del (p.Gly117fs)	ETV2, LOC130064247 (G117fs +1 more)	Deletion (frameshift variant +1 more)	Abnormal vertebral morphology +3 more	GLikely pathogenic
Select item 1162783	NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr)	ETV2 (D160Y +2 more)	Single nucleotide variant (missense variant)	Abnormal vertebral morphology +3 more	GLikely pathogenic